Genetic medicine hits the mainstream

Treatments and screening are still costly

Providers increasingly are investing in genetic medicine to streamline patient care, but barriers to nationwide adoption remain, Joseph Conn reports for Modern Healthcare.

Researchers first sequenced the full human genome in 2003. "After decades of work and ballyhoo," Conn explains, "patients, as a regular part of their care, are getting their DNA sequenced, seeing it matched against known genetically related conditions and having their medications checked for genetic suitability."

There are nearly 10,000 conditions that can be identified using genetic tests, up 12-fold since 2012, according to National Library of Medicine's Genetic Testing Registry.

Genetic medicine in action

Providers such as Inova Health System and Geisinger Health System are now using genetic testing to screen patients for heritable diseases and inform treatment decisions.

For instance, Inova's MediMap pharmaco-genomic testing program lets doctors learn which medications will be well tolerated or potentially harmful based on a patient's genetic information. Craig Cheifetz—medical director of the system's concierge medicine program, which offers the genetic screening—said it helps him formulate a "logical treatment plan."

Geisinger Health System started investing in genetic medicine a decade ago via its MyCode Community Health Initiative research biobank, which gathers genetic data from patients to conduct research and improve care, Conn reports. David Ledbetter, Geisinger's EVP and chief scientific officer, said about 130,000 patients have agreed to participate in the program so far.

According to Conn, Geisinger's program currently "looks for 76 genes linked to 27 conditions, including cancer and cardiovascular disease, based on the recommendations of the American College of Medical Genetics and Genomics and Geisinger's own research."

But genetic medicine isn't confined to screening—it also encompasses new treatments. For instance, three years ago, genetic testing at Children's Hospital Los Angeles revealed that then 18-month-old Miles McIntosh had spinal muscular atrophy (SMA), which causes debilitating nerve damage, Conn reports.

How Geisinger wants to 'transform health care at its core' using gene sequencing, big data

McIntosh's parents enrolled him in a stage-three clinical trial of a Biogen drug "built to boost the protein-producing output of a 'backup' gene to the defective gene Miles has had since birth." FDA later approved the drug and McIntosh's mother, Nikki, said it has improved her son's motor skills and quality of life, although his condition may eventually worsen. "This buys us time," she said.

Barriers to growth

Genetic medicine is an exciting trend, but Conn notes that "most of the health care industry is still struggling to overcome significant social, economic, and technical barriers to widespread adoption of genetics-based patient care."

For instance, Biogen's drug for SMA, which is called Spinraza, costs "$750,000 for the first year, and $375,000 each year thereafter," Conn writes. And he points out that genetic testing can also be expensive, although prices are coming down.

That high cost is "why most providers getting into precision medicine are performing lower-cost tests for specific genes or exome sequencing, which excludes the 98 percent to 99 percent of the genome that doesn't contain genes," Conn writes. For instance, Veritas Genetics in 2015 began offering a $999 genetic sequencing test that assesses the nearly 4,000 genes where abnormalities have been associated with diseases, according to Emily Qian, a genetic counselor with the company. 

And providers also are sensitive about coverage issues—many insurance companies are hesitant to pay for screenings or high-cost treatments unless there is a clear medical benefit. John Deeken, an oncologist and SVP at the Inova Translational Medicine Institute, said, "We spen[d] a lot of time looking at what can be reimbursed by insurance."

When you get a stent, UPMC wants you to take a genetic tes

IT infrastructure and data interoperability are also barriers to the growth of genetic medicine.

Brendan FitzGerald, director of research at HIMSS Analytics, explains few organization are conducting genetic tests "outside of large academic medical centers and hospital systems." And that is part of the reason why "there's no widespread demand yet for health IT systems equipped to handle genetic testing, either from existing enterprise EHR vendors or specialty systems developers," Conn writes.

But it's also hard for providers and researchers to exchange genetic data. "We don't have ways to link those [data] silos together," says Philip Payne, director of the Institute for Informatics at Washington University School of Medicine. "It's just not enough to get the information back to clinicians at the point of care" as a decision support tool (Conn, Modern Healthcare, 2/18).

How to build a best-in-class cancer genetic counseling program

Join Advisory Board's Deirdre Saulet and the National Society of Genetic Counselors' Mary Freivogel and Sandra Brown for a webconference on March 7 on how to keep up in the rapidly changing world of genetic counseling.

You'll learn national cancer genetic counseling benchmarks, genetic counseling best practices, and strategies to implement and optimize genetic counseling at your organization.

Register now


Next in the Daily Briefing

Opioids should be 'last resort' in lower back pain treatment, ACP says

Read now